Clinical and endocrine spectrum in patients with the 45,X/46,XY karyotype.
Cytogenetic and endocrine studies were performed in five unrelated 45,X/46,XY individuals in an attempt to correlate them with their clinical expression and gonadal morphology. A lack of a consistent pattern between cytogenetic findings and phenotype was observed. Endocrine studies revealed a wide spectrum of hypothalamic, pituitary, and gonadal hormone production as assessed by the base line levels of LH, FSH, T, and delta 4-A and their responses to appropriate exogenous stimulation (LH-RH and HCG). An adequate correlation between endocrine findings with gonadal morphology and phenotype could be established; thus demonstrating that patients with this particular chromosome complement have a functional integrity of the gonadotropin hypothalamic pituitary activity modulated accordingly with the gonadal function of each particular case.
D000293:Adolescent; D000328:Adult; D002648:Child; D002871:Chromosome Banding; D002875:Chromosomes / Q000648:ultrastructure; D012734:Disorders of Sex Development / Q000097:blood / Q000235:genetics*; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007621:Karyotyping; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013739:Testosterone / Q000097:blood
D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone